CAJ | 학술논문

目的探讨非综合征型耳聋家系患者mtDNA A1555G突变性质及其特点,探索临床表型多样性的分子遗传学基础.方法应用聚合酶链反应-限制性片段长度多态和实时荧光-扩增阻碍突变系统-定量PCR(real time-amplification refractory mutation system-quantitative PCR,RT-ARMS-qPCR)检测7个非综合征型耳聋家系71个成员的mtDNA A1555G突变,并收集、分析其临床资料.结果 7个家系中所有受检的母系成员mtDNA A1555G突变均为阳性,突变性质含同质性和异质性两种;非母系成员及配偶该突变为阴性.7个家系mtDNA A1555G同质性突变的拷贝数与耳聋轻重程度相关(R=0.341,P=0.022);mtDNA A1555G异质性突变的拷贝数与耳聋轻重程度相关(R=0.85,P=0.015).结论 mtDNA A1555G突变可导致非综合征型耳聋和氨基糖甙类抗生素致聋,其突变性质含同质性和异质性两种,且含mtDNA A1555G位点的突变型与野生型的比例与耳聋的严重程度密切相关.
목적 탐토비종합정형이롱가계환자mtDNA A1555G돌변성질급기특점,탐색림상표형다양성적분자유전학기출.방법 응용취합매련반응-한제성편단장도다태화실시형광-확증조애돌변계통-정량PCR(real time-amplification refractory mutation system-quantitative PCR,RT-ARMS-qPCR)검측7개비종합정형이롱가계71개성원적mtDNA A1555G돌변,병수집、분석기림상자료.결과 7개가계중소유수검적모계성원mtDNA A1555G돌변균위양성,돌변성질함동질성화이질성량충;비모계성원급배우해돌변위음성.7개가계mtDNA A1555G동질성돌변적고패수여이롱경중정도상관(R=0.341,P=0.022);mtDNA A1555G이질성돌변적고패수여이롱경중정도상관(R=0.85,P=0.015).결론 mtDNA A1555G돌변가도치비종합정형이롱화안기당대류항생소치롱,기돌변성질함동질성화이질성량충,차함mtDNA A1555G위점적돌변형여야생형적비례여이롱적엄중정도밀절상관.
Objective To Study mitochondrial DNA (mtDNA) A1555G mutation in seven families with nonsyndromic hearing loss (NSHL). Methods Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and real time-amplification refractory mutation system-quantitative PCR (ARMS-qPCR) were applied to detect mtDNA A1555G mutation in seven NSHL families. Related clinical data were also collected and analyzed. Results The mtDNA A1555G muation was detected in members from the maternal side, including heteroplasmy and homozygosis, others were negative for this mutation. The copy number of homoplasmic or heteroplasmic mutations of mtDNA A1555G correlated well with the degree of deafness (R=0.341, P=0.022 and R=0.85, P=0.015, respectively). Conclusion The mutation rate of the mtDNA A1555G is high in the NSHL patients, the mutation type include heteroplasmy and homozygosis. There is significant correlation between the mtDNA A1555G copy number and the severity of hearing loss.